Stickler syndrome (Q64844): Difference between revisions

@@ description / pt-br / description / pt-br @@
+A síndrome de Stickler é uma vitreorretinopatia hereditária caracterizada pela associação de sinais oculares com formas mais ou menos completas da sequência de Pierre-Robin, transtornos ósseos e surdez neurossensorial. Os transtornos oculares podem incluir catarata juvenil, miopia, estrabismo, degeneração coriorretiniana ou vitreorretiniana, descolamento de retina e uveíte crônica. As anomalias ósseas incluem platispondilia moderada e epífises grandes, frequentemente anormais. A frouxidão articular juvenil é seguida de sinais precoces de artrose.
@@ description / en / description / en @@
+Stickler syndrome is an inherited vitreoretinopathy characterised by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Bone anomalies include mild platyspondyly and large, often abnormal, epiphyses. Juvenile joint laxity is followed by early signs of arthrosis.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/246271691
@@ Property / Canonical URI: https://id.who.int/icd/entity/246271691 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:ID_246271691
@@ Property / CURIE: CID11:ID_246271691 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_246271691
@@ Property / Canary Token: dki-india-ID_246271691 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank

Latest revision as of 12:33, 14 August 2026

Stickler syndrome is an inherited vitreoretinopathy characterised by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Bone anomalies include mild platyspondyly and large, often abnormal, epiphyses. Juvenile joint laxity is followed by early signs of arthrosis.

Language	Label	Description	Also known as
default for all languages	ID_246271691
English	Stickler syndrome	Stickler syndrome is an inherited vitreoretinopathy characterised by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Bone anomalies include mild platyspondyly and large, often abnormal, epiphyses. Juvenile joint laxity is followed by early signs of arthrosis.